Wim Wuyts, PH.D.
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Dr. Wuyts serves on the Scientific and Medical Advisory Board of the MHE Research Foundation
Research authored by Dr. Wuyts
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List of Publications via PubMed
(NIH National Library of Medicine)
Research authored by Dr. Wuyts
Click the tab and a window will appear.
List of Publications via PubMed
(NIH National Library of Medicine)
Current Research project being conducted by Dr. Wuyts, along with the help of the MHE
Research Foundation and its MHE Research Registry.
Research Foundation and its MHE Research Registry.
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Mutation detection strategies for molecular screening in patients with MHE.
Abstract 2005 MHE Conference
Wim Wuyts PH.D.
Department of Medical Genetics University of Antwerp, Belgium.
Hereditary multiple exostoses (HME) is an autosomal dominant bone disorder characterized by the
presence of bony outgrowths (exostoses) on the long bones. HME is a genetically heterogeneous
condition and at present two causal genes have been identified: EXT1 on chromosome 8q23-q24
and EXT2 on chromosome 11p11.2. A third locus, EXT3 on chromosome 19p has been suggested
but is controversial.
Since the identification of the HME causing genes, molecular analysis of HME patients has been
optimized to increase sensitivity of the testing and reduce the cost. Recently, we further optimized
the mutation screening protocol for both EXT1 and EXT2. For all coding exons DHPLC conditions
were optimized and validated in a large set of HME patients with a known EXT1 or EXT2 mutation. All
mutations could be detected under at least 1 DHPLC condition, providing a robust and sensitive
alternative for labor extensive and more expensive sequencing analysis.
However, approximately 15 to 20% of HME patients does not show a mutation after extended
sequence analysis of EXT1 and EXT2. We therefore expanded the screening protocol with FISH,
MLPA and RNA analysis. This enabled us to detect (partial) EXT1 or EXT2 deletions in approximately
30%of EXT1/EXT2 mutation negative patients. At least one patient with two copies of both EXT
genes showed loss of one EXT1 allele on the RNA level, but the underlying cause is still under
investigation.
The various mutation detection strategies will be discussed as well as the mutation spectrum
observed in HME patients.
Abstract 2005 MHE Conference
Wim Wuyts PH.D.
Department of Medical Genetics University of Antwerp, Belgium.
Hereditary multiple exostoses (HME) is an autosomal dominant bone disorder characterized by the
presence of bony outgrowths (exostoses) on the long bones. HME is a genetically heterogeneous
condition and at present two causal genes have been identified: EXT1 on chromosome 8q23-q24
and EXT2 on chromosome 11p11.2. A third locus, EXT3 on chromosome 19p has been suggested
but is controversial.
Since the identification of the HME causing genes, molecular analysis of HME patients has been
optimized to increase sensitivity of the testing and reduce the cost. Recently, we further optimized
the mutation screening protocol for both EXT1 and EXT2. For all coding exons DHPLC conditions
were optimized and validated in a large set of HME patients with a known EXT1 or EXT2 mutation. All
mutations could be detected under at least 1 DHPLC condition, providing a robust and sensitive
alternative for labor extensive and more expensive sequencing analysis.
However, approximately 15 to 20% of HME patients does not show a mutation after extended
sequence analysis of EXT1 and EXT2. We therefore expanded the screening protocol with FISH,
MLPA and RNA analysis. This enabled us to detect (partial) EXT1 or EXT2 deletions in approximately
30%of EXT1/EXT2 mutation negative patients. At least one patient with two copies of both EXT
genes showed loss of one EXT1 allele on the RNA level, but the underlying cause is still under
investigation.
The various mutation detection strategies will be discussed as well as the mutation spectrum
observed in HME patients.
1/ 1/ 07 Abstract information concerning this research project.
Clinical and molecular study of factors implicated in Multiple Osteochondroma
(MHE / MO / HME).
This project aims the identification and study of genes involved in the disorder Multiple
Osteochondroma (MO) / Multiple Hereditary Exostoses (MHE). MHE / MO / HME is a hereditary bone
disorder characterized by the presence of bony outgrowths (osteochondromas / exostoses) on the
long bones. MHE / MO / HME patients suffer from pain caused by the pressure of the
osteochondromas / exostoses on neighboring tissues, organs or nerves. Often MHE / MO / HME
patients also show skeletal deformities. However, great clinical variability is observed between the
various patients, even within one family.
It has been shown that mutations in one of two genes, EXT1 or EXT2, are responsible for the
majority of MHE / MO / HME cases. However, the exact mechanism leading to the development of
osteochondromas is still not fully understood.
This project concentrates on the molecular aspects of MHE / MO / HME. Tumor and blood samples of
MHE / MO / HME patients are collected and studied to see how they differ from samples from healthy
individuals. This may provide valuable information on the mechanisms of osteochondroma /
exostoses development and may give us more insight in factors leading to the clinical variability.
Clinical and molecular study of factors implicated in Multiple Osteochondroma
(MHE / MO / HME).
This project aims the identification and study of genes involved in the disorder Multiple
Osteochondroma (MO) / Multiple Hereditary Exostoses (MHE). MHE / MO / HME is a hereditary bone
disorder characterized by the presence of bony outgrowths (osteochondromas / exostoses) on the
long bones. MHE / MO / HME patients suffer from pain caused by the pressure of the
osteochondromas / exostoses on neighboring tissues, organs or nerves. Often MHE / MO / HME
patients also show skeletal deformities. However, great clinical variability is observed between the
various patients, even within one family.
It has been shown that mutations in one of two genes, EXT1 or EXT2, are responsible for the
majority of MHE / MO / HME cases. However, the exact mechanism leading to the development of
osteochondromas is still not fully understood.
This project concentrates on the molecular aspects of MHE / MO / HME. Tumor and blood samples of
MHE / MO / HME patients are collected and studied to see how they differ from samples from healthy
individuals. This may provide valuable information on the mechanisms of osteochondroma /
exostoses development and may give us more insight in factors leading to the clinical variability.
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Dr. Wuyts research
Press Release 1 / 19 / 08
Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid
Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New
Multiplex Ligation-Dependent Probe Amplification Probe Set in Patients with Multiple
Osteochondromas
Ivy Jennes*, Mark M. Entius{dagger}, Els Van Hul*, Alessandro Parra{ddagger}, Luca Sangiorgi
{ddagger} and Wim Wuyts*
To Read this publication Click Here
Both Luca Sangiorgi, M.D., Ph.D. and Wim Wuyts, Ph.D. are members of our Scientific & Medical
Advisory Board and our foundation helped support this research
Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid
Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New
Multiplex Ligation-Dependent Probe Amplification Probe Set in Patients with Multiple
Osteochondromas
Ivy Jennes*, Mark M. Entius{dagger}, Els Van Hul*, Alessandro Parra{ddagger}, Luca Sangiorgi
{ddagger} and Wim Wuyts*
To Read this publication Click Here
Both Luca Sangiorgi, M.D., Ph.D. and Wim Wuyts, Ph.D. are members of our Scientific & Medical
Advisory Board and our foundation helped support this research
Questions to the Scientific & Medical Advisory Board,
Please use the contact Scientific & Medical Advisory Board Tab or you may email directly
AdvisoryBoard@mheresearchfoundation.org
Please use the contact Scientific & Medical Advisory Board Tab or you may email directly
AdvisoryBoard@mheresearchfoundation.org
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Have a Question or Comments for the Board of Directors,
Please use the contact Board of Directors Tab or General enquiries can be emailed to
Boardofdirectors@mheresearchfoundation.org
Please use the contact Board of Directors Tab or General enquiries can be emailed to
Boardofdirectors@mheresearchfoundation.org
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By the Health On the Net Foundation. Click here to verify.# HON Conduct 282463 and is linked on the NIH
National Library of Medicine, Directory of Health Organizations (SIS) website, as well as the link for Patient
Information on The Diseases Database a cross-referenced index of human disease, and the Intute: health & life
sciences a free online service providing access to the very best Web resources for education and research
located in the UK
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